Evidence map›Paper›PMID 40414598›Full record

ArticleBiological psychiatry. Cognitive neuroscience and neuroimaging2025

Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.

Ana I Silva, Ida E Sønderby, George Kirov, Abdel Abdellaoui, Ingrid Agartz, David Ames, Nicola J Armstrong, Eric Artiges, Tobias Banaschewski, Anne S Bassett and 97 more

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Article in Biological psychiatry. Cognitive neuroscience and neuroimaging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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2 citing papers in PubMed.

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5 · Who and what money

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107 authors.

Ana I SilvaSchool for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, Minnesota. Electronic address: silvaai@umn.edu.
Ida E SønderbyCentre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
George KirovNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Abdel AbdellaouiDepartment of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Ingrid AgartzNorwegian Centre for Mental Disorders Research (NORMENT), Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden; Department of Psychiatric Research, Diakonhjemmet Hospital, Oslo, Norway.
David AmesUniversity of Melbourne Academic Unit for Psychiatry of Old Age, Kew, Victoria, Australia.
Nicola J ArmstrongMathematics and Statistics, Curtin University, Perth, Western Australia, Australia.
Eric ArtigesInstitut National de la Santé et de la Recherche Médicale (INSERM) U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay, Centre National de la Recherche Scientifique, Centre Borelli, Gif-sur-Yvette, France; Psychiatry Department, Établissement public de santé Barthélémy Durand, Étampes, Île-de-France, France.
Tobias BanaschewskiDepartment of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.
Carrie E BeardenSemel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California; Department of Psychology, University of California, Los Angeles, California.
John BlangeroDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, Texas.
Rune BoenSemel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California.
Dorret I BoomsmaComplex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, the Netherlands.
Robin BülowInstitute for Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
Nancy J ButcherDepartment of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Vince CalhounTri-institutional Center for Translational Research in Neuroimaging and Data Science, Georgia State, Georgia Tech, Emory University, Atlanta, Georgia.
Linda E CampbellSchool of Psychological Science, University of Newcastle, Newcastle, New South Wales, Australia.
Eva W C ChowClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Simone CiufoliniDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Michael C CraigNational Female Hormone Clinic, London, United Kingdom; Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Benedicto Crespo-FarrocoCentro de Investigación Biomédica en Red en Salud Mental, Sevilla, Spain; Instituto de Investigación Biomédica de Sevilla IBIS-CSIC, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Departamento de Psiquiatría, Sevilla, Spain.
Adam C CunninghamDivision of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Shareefa DalvieBiomedical Research and Innovation Platform, South African Medical Research Council, Cape Town, South Africa; Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Eileen DalyDepartment of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Paola DazzanDepartment of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Eco J C de GeusAmsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, the Netherlands; Department of Biological Psychology, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Greig I de ZubicaraySchool of Psychology and Counselling, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.
Joanne L DohertyDivision of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom; Cardiff University's Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, United Kingdom.
Gary DonohoeSchool of Psychology, University of Galway, Galway, Ireland; Center for Neuroimaging, Cognition and Genomics, University of Galway, Galway, Ireland.
Mark DrakesmithCardiff University's Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, United Kingdom; Communicable Disease Surveillance Centre, Public Health Wales, Cardiff, Wales, United Kingdom.
Thomas EspesethDepartment of Psychology, University of Oslo, Oslo, Norway; Department of Psychology, Oslo New University College, Oslo, Norway.
Vincent FrouinUniversité Paris-Saclay, French Alternative Energies and Atomic Energy Commission, Neurospin, Gif-sur-Yvette, France.
Hugh GaravanDepartment of Psychological Science, University of Vermont, Burlington, Vermont.
David C GlahnDepartment of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
Naomi J Goodrich-HunsakerDepartment of Neurology, The University of Utah, Salt Lake City, Utah.
Penny A GowlandSir Peter Mansfield Imaging Centre, University of Nottingham, Nottingham, United Kingdom.
Hans J GrabeDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Antoine GrigisUniversité Paris-Saclay, French Alternative Energies and Atomic Energy Commission, Neurospin, Gif-sur-Yvette, France.
Maria GudbrandsenDepartment of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; Centre for Research in Psychological Wellbeing, School of Psychology, University of Roehampton, London, United Kingdom.
Boris A GutmanDepartment of Biomedical Engineering, Illinois Institute of Technology, Chicago, Illinois.
Jan HaavikDepartment of Biomedicine, University of Bergen, Bergen, Norway; Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
Asta K HåbergDepartment of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway; MiDT National Research Center, Centre for Medical Equipment, Technology, and Innovation, St. Olav's Hospital, Trondheim, Norway.
Jeremy HallNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Andreas HeinzDepartment of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; German Center for Mental Health, Partner Site Berlin-Potsdam, Berlin, Germany.
Sarah HohmannDepartment of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
Jouke-Jan HottengaDepartment of Biological Psychology, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Neurological Disorder Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
Sébastien JacquemontCentre de recherche CHU Sainte Justine, Department of Psychiatry and Addictology, University of Montreal, Montreal, Quebec, Canada; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Neda JahanshadImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, California.
Rachel K JonasSemel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California.
Derek K JonesCardiff University's Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, United Kingdom.
Erik G JönssonCentre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.
Sanne KoopsBiomedical Sciences of Cells and Systems, University Medical Center Groningen, Rijksuniversiteit Groningen, Groningen, the Netherlands.
Kuldeep KumarCentre de recherche CHU Sainte Justine, Department of Psychiatry and Addictology, University of Montreal, Montreal, Quebec, Canada.
Stephanie Le HellardNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway; Dr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Herve LemaitreGroupe d'Imagerie Neurofonctionnelle, Institut des Maladies Neurodégénératives, Centre National de la Recherche Scientifique UMR 5293, Université de Bordeaux, Centre Broca Nouvelle-Aquitaine, Bordeaux, France.
Jingyu LiuTri-institutional Center for Translational Research in Neuroimaging and Data Science, Georgia State, Georgia Tech, Emory University, Atlanta, Georgia; Department of Computer Science, Georgia State University, Atlanta, Georgia.
Astri J LundervoldDepartment of Biological and Medical Psychology, University of Bergen, Bergen, Norway.
Jean-Luc MartinotInstitut National de la Santé et de la Recherche Médicale (INSERM) U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay, Centre National de la Recherche Scientifique, Centre Borelli, Gif-sur-Yvette, France.
Karen A MatherCentre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia; Neuroscience Research Australia, Sydney, New South Wales, Australia.
Donna M McDonald-McGinnDepartment of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania; Division of Human Genetics, 22q and You Center, Clinical Genetics Center, Section of Genetic Counseling, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy.
Katie L McMahonSchool of Clinical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia.
Allan F McRaeInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Sarah E MedlandPsychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Clara A MoreauCentre de recherche CHU Sainte Justine, Department of Psychiatry and Addictology, University of Montreal, Montreal, Quebec, Canada.
Kieran C MurphyDepartment of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.
Declan MurphyDepartment of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Robin M MurrayDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Frauke NeesInstitute of Medical Psychology and Medical Sociology, University Medical Center Schleswig-Holstein, Kiel University, Kiel, Germany.
Michael J OwenNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Marie-Laure Paillère MartinotInstitut National de la Santé et de la Recherche Médicale (INSERM) U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay, Centre National de la Recherche Scientifique, Centre Borelli, Gif-sur-Yvette, France; Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Child and Adolescent Psychiatry Department, Pitié-salpêtrière Hospital, Paris, France.
Diimitri Papadopoulos OrfanosUniversité Paris-Saclay, French Alternative Energies and Atomic Energy Commission, Neurospin, Gif-sur-Yvette, France.
Tomas PausDepartments of Psychiatry and Neuroscience, Faculty of Medicine and Centre Hospitalier, Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada; Department of Psychiatry, McGill University, Montreal, Quebec, Canada.
Luise PoustkaDepartment of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.
Tiago Reis MarquesDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; Psychiatric Imaging Group, MRC London Institute of Medical Sciences, Hammersmith Hospital, Imperial College London, London, United Kingdom.
David R RoalfNeurodevelopment and Psychosis Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
Perminder S SachdevCentre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia; Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, New South Wales, Australia.
Freda SchefflerDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, Western Cape, South Africa; Neuroscience Institute, University of Cape Town, Cape Town, Western Cape, South Africa.
J Eric SchmittNeurodevelopment and Psychosis Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania; Division of Neuroradiology, Department of Radiology, University of Pennsylvania, Philadelphia, Pennsylvania.
Gunter SchumannCentre for Population Neuroscience and Stratified Medicine, Institute of Science and Technology for Brain-inspired Intelligence, Fudan University, Shanghai, Shanghai, China; Centre for Population Neuroscience and Stratified Medicine, Department of Psychiatry and Clinical Neuroscience, Charite University Medicine, Berlin, Germany.
Vidar M SteenNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway; Dr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Dan J SteinSouth African Medical Research Council Unit on Risk and Resilience, Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Lachlan T StrikePsychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Alexander TeumerDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany; German Centre for Cardiovascular Research, Partner Site Greifswald, Greifswald, Germany.
Anbupalam ThalamuthuCentre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Sophia I ThomopoulosImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, California.
Diana Tordesillas-GutiérrezInstituto de Física de Cantabria, Santander, Spain; Department of Radiology, Instituto de Investigación Valdecilla, Marqués de Valdecilla University Hospital, Santander, Spain.
Julian N TrollorCentre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia; National Centre of Excellence in Intellectual Disability Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Anne UhlmannDepartment of Child and Adolescent Psychiatry and Psychotherapy, TU Dresden, Dresden, Germany.
Ariana VajdiSemel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California; Department of Psychiatry, Charles R. Drew University of Medicine and Science, Los Angeles, California.
Dennis van 't EntAmsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, the Netherlands; Department of Biological Psychology, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Therese van AmelsvoortSchool for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
Marianne B M van den BreeNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Dennis van der MeerSchool for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands; Centre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Javier Vázquez-BourgonCentro de Investigación Biomédica en Red en Salud Mental, Sevilla, Spain; Department of Psychiatry, Instituto de Investigación Valdecilla, University Hospital Marqués de Valdecilla, Santander, Spain; Departamento de Medicina y Psiquiatría, Universidad de Cantabria, Santander, Spain.
Julio E Villalón-ReinaImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, California.
Uwe VölkerGerman Centre for Cardiovascular Research, Partner Site Greifswald, Greifswald, Germany; Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Jacob A S VorstmanDepartment of Psychiatry, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Lars T WestlyeCentre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway; Department of Psychology, University of Oslo, Oslo, Norway.
Nigel WilliamsDivision of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Katharina WittfeldDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Margaret J WrightQueensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, California.
Ole A AndreassenCentre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Section for Precision Psychiatry, Oslo University Hospital, Oslo, Norway.
David E J LindenSchool for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands. Electronic address: david.linden@maastrichtuniversity.nl.
ENIGMA-CNV Working Group

Funding

NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
Transcranial Direct Current Stimulation for Treatment of Auditory Verbal HalluciP20GM103472 · NIGMS · THE MIND RESEARCH NETWORK · PI CALHOUN, VINCE D · 2012 to 2017
$14.3M
Workforce Development CoreU54HG013247 · NHGRI · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI John Blangero · 2023 to 2026
$10.5M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Integration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
SOLAR-Eclipse Computational Tools for Imaging GeneticsR01EB015611 · NIBIB · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI KOCHUNOV, PETER V. · 2012 to 2024
$5.0M
Genetics of Brain Structure and FunctionR01MH078143 · NIMH · YALE UNIVERSITY · PI GLAHN, DAVID C · 2006 to 2014
$4.3M
Male/Female differences in psychosis and mood disorders:Dynamic imaging-genomic models for characterizing and predicting psychosis and mood dR01MH118695 · NIMH · GEORGIA STATE UNIVERSITY · PI ADALI, TULAY, CALHOUN, VINCE D · 2019 to 2023
$3.8M
Genomics of Developmental Trajectories in TwinsRC2MH089995 · NIMH · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI HUDZIAK, JAMES J. · 2009 to 2010
$3.8M
Psychometric and Genetic Assessments of Substance UseR37DA018673 · NIDA · VIRGINIA COMMONWEALTH UNIVERSITY · PI NEALE, MICHAEL CHURTON · 2005 to 2014
$3.7M
Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndromeR01MH119185 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2019 to 2024
$3.5M
EPA EP-C-15-001NHGRI NIH HHS U54 HG013247NIA NIH HHS R01 AG058854NIA NIH HHS R56 AG058854NIBIB NIH HHS R01 EB015611NIBIB NIH HHS U54 EB020403NICHD NIH HHS R01 HD050735NIDA NIH HHS R01 DA018673NIDA NIH HHS R01 DA049238NIDA NIH HHS R37 DA018673NIDDK NIH HHS R01 DK092127NIGMS NIH HHS P20 GM103472NIMH NIH HHS R01 MH058799NIMH NIH HHS R01 MH078143NIMH NIH HHS R01 MH081802NIMH NIH HHS R01 MH083824NIMH NIH HHS R01 MH085772NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH116147NIMH NIH HHS R01 MH117601NIMH NIH HHS R01 MH118695NIMH NIH HHS R01 MH119185NIMH NIH HHS R01 MH129742NIMH NIH HHS R01 MH134004NIMH NIH HHS R21 MH116473NIMH NIH HHS RC2 MH089951NIMH NIH HHS RC2 MH089995NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH101724NIMH NIH HHS U01 MH119736NIMH NIH HHS U01 MH119737NIMH NIH HHS U01 MH119738NIMH NIH HHS U01 MH119740NIMH NIH HHS U01 MH119741NIMH NIH HHS U24 MH068457NINDS NIH HHS R01 NS107513Wellcome Trust
6 · The paper itself

Abstract

backgroundCopy number variants (CNVs) may increase the risk for neurodevelopmental conditions. The neurobiological mechanisms that link these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals who carry CNVs are associated with their degree of penetrance.

methodsWe investigated whether increased CNV penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis)-CNV consortium. In the main analyses, we included 9268 individuals (aged 7-90 years, 54% female), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 noncarriers. CNV penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk of developing either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder, and congenital malformations).

resultsFor both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus.

conclusionsOur findings link global and regional cortical morphometric features with CNV penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

Indexed as

Cerebral CortexDevelopmental DisabilitiesDNA Copy Number VariationsNeurodevelopmental DisordersPenetranceSchizophreniaAdolescentAdultAgedAged, 80 and overChildFemaleGenetic Predisposition to DiseaseHumansMagnetic Resonance ImagingMaleAutismNeuroimagingPsychiatric disordersSchizophreniaStructural imaging

Identifiers

PMID40414598
PMCPMC13107928

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